ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.9181A>T (p.Met3061Leu)

gnomAD frequency: 0.00158  dbSNP: rs143473183
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000712397 SCV000618640 likely benign not provided 2018-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079382 SCV000763130 likely benign Nemaline myopathy 2 2024-12-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712397 SCV000842878 uncertain significance not provided 2018-07-20 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000712397 SCV003810143 uncertain significance not provided 2019-08-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001079382 SCV001454965 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004553142 SCV004770746 likely benign NEB-related disorder 2020-06-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.